Have questions? Visit https://www.reddit.com/r/SNPedia

rs797044457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044457(-;-)
Make rs797044457(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position45989136
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs797044457
dbSNP (old)rs797044457
ClinGenrs797044457
ebirs797044457
HLIrs797044457
Exacrs797044457
Gnomadrs797044457
Varsomers797044457
Maprs797044457
PheGenIrs797044457
Biobankrs797044457
1000 genomesrs797044457
hgdprs797044457
ensemblrs797044457
gopubmedrs797044457
geneviewrs797044457
scholarrs797044457
googlers797044457
pharmgkbrs797044457
gwascentralrs797044457
openSNPrs797044457
23andMers797044457
23andMe allrs797044457
SNP Nexus

SNPshotrs797044457
SNPdbers797044457
MSV3drs797044457
GWAS Ctlgrs797044457
Max Magnitude0
ClinVar
Risk rs797044457(-;-)
Alt rs797044457(-;-)
Reference Rs797044457(C;C)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy 1
Variation info
Gene COL6A1
CLNDBN Ullrich congenital muscular dystrophy 1
Reversed 0
HGVS NC_000021.8:g.47409050delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018717.26,